Researcher

Gozalbo, Estela R.

Full professor - Personal chair, H/MS

View graph of relations
  1. 2019
  2. Published
  3. Published
  4. Published
    Bleeker, J. C., Kok, I. L., Ferdinandusse, S., de Vries, M., Derks, T. G. J., Mulder, M. F., ... Visser, G. (2019). Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency. Journal of Inherited Metabolic Disease, 42(1), 159-168. https://doi.org/10.1002/jimd.12037
  5. Published
  6. 2018
  7. Published
  8. Published
  9. Published
  10. Published
  11. Published
  12. Published
    Demirdas, S., van Spronsen, F. J., Hollak, C. E. M., van der Lee, J. H., Bisschop, P. H., Vaz, F. M., ... Bosch, A. M. (2018). Response to the Letter to the Editor Regarding "Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria". Annals of Nutrition and Metabolism, 72(1), 80-81. https://doi.org/10.1159/000486185
  13. Published
  14. 2017
  15. Published
    Falkenberg, K. D., Braverman, N. E., Moser, A. B., Steinberg, S. J., Klouwer, F. C. C., Schluter, A., ... Waterham, H. R. (2017). Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder. American Journal of Human Genetics, 101(6), 965-976. https://doi.org/10.1016/j.ajhg.2017.11.007
  16. Published
    van Ginkel, W. G., van Vliet, D., Burgerhof, J. G. M., de Blaauw, P., Gozalbo, M. E. R., Heiner-Fokkema, M. R., & van Spronsen, F. J. (2017). Presumptive brain influx of large neutral amino acids and the effect of phenylalanine supplementation in patients with Tyrosinemia type 1. PLOS ONE, 12(9), [0185342]. https://doi.org/10.1371/journal.pone.0185342
  17. Published
  18. Published
  19. Published
    Jahja, R., van Spronsen, F. J., de Sonneville, L. M. J., van der Meere, J. J., Bosch, A. M., Hollak, C. E. M., ... Huijbregts, S. C. J. (2017). Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study. Behavior Genetics, 47(5), 486-497. https://doi.org/10.1007/s10519-017-9863-1
  20. Published
  21. Published
  22. Published
    Jahja, R., van der Meere, J. J., Legemaat, A. M., Rubio-Gozalbo, M. E., Hofstede, F. C., van der Ploeg, A. T., ... van Spronsen, F. J. (2017). Cognitive Profile and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study. Neuropsychology, 31(4), 437-447. https://doi.org/10.1037/neu0000358
  23. Published
  24. Published
    Welling, L., Bernstein, L. E., Berry, G. T., Burlina, A. B., Eyskens, F., Gautschi, M., ... Galactosemia Network GalNet (2017). International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. Journal of Inherited Metabolic Disease, 40(2), 171-176. https://doi.org/10.1007/s10545-016-9990-5
  25. Published
    Rubio-Gozalbo, M. E., Bosch, A. M., Burlina, A., Berry, G. T., Treacy, E. P., Steering Comm, & Galactosemia Network Representativ (2017). The galactosemia network (GalNet). Journal of Inherited Metabolic Disease, 40(2), 169-170. https://doi.org/10.1007/s10545-016-9989-y
  26. Published
    van Erven, B., Welling, L., van Calcar, S. C., Doulgeraki, A., Eyskens, F., Gribben, J., ... Bosch, A. M. (2017). Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis. JIMD reports, 35, 87-96. https://doi.org/10.1007/8904_2016_28
  27. Published
    Demirdas, S., van Spronsen, F. J., Hollak, C. E. M., van der Lee, J. H., Bisschop, P. H., Vaz, F. M., ... Bosch, A. M. (2017). Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria. Annals of Nutrition and Metabolism, 70(2), 111-121. https://doi.org/10.1159/000465529
  28. 2016
  29. Published
  30. Published
  31. Published
  32. Published
  33. Published
    van Capelle, C. I., van der Meijden, J. C., van den Hout, J. M. P., Jaeken, J., Baethmann, M., Voit, T., ... van der Ploeg, A. T. (2016). Childhood Pompe disease: clinical spectrum and genotype in 31 patients. Orphanet Journal of Rare Diseases, 11, [65]. https://doi.org/10.1186/s13023-016-0442-y
  34. Published
    Jahja, R., van Spronsen, F. J., de Sonneville, L. M. J., van der Meere, J. J., Bosch, A. M., Hollak, C. E. M., ... Huijbregts, S. C. J. (2016). Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study. Journal of Inherited Metabolic Disease, 39(3), 355-362. https://doi.org/10.1007/s10545-016-9918-0
  35. Published
  36. Published
  37. Published
    Stockmann, H., Coss, K. P., Rubio Gozalbo, E., Knerr, I., Fitzgibbon, M., Maratha, A., ... Treacy, E. P. (2016). IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia. In E. Morava, M. Baumgartner, M. Patterson, S. Rahman, J. Zschocke, & V. Peters (Eds.), JIMD Reports (Vol. 27, pp. 47-53). Berlin Heidelberg: Springer. https://doi.org/10.1007/8904_2015_490
  38. 2015
  39. Published
    Chien, Y-H., Abdenur, J. E., Baronio, F., Bannick, A. A., Corrales, F., Couce, M., ... Blom, H. J. (2015). Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes. Orphanet Journal of Rare Diseases, 10, [99]. https://doi.org/10.1186/s13023-015-0321-y
  40. Published
  41. Published
  42. 2014
  43. Published
    Timmers, I., Roebroeck, A., Bastiani, M., Jansma, B. M., Rubio-Gozalbo, M. E., & Zhang, H. (2014). Assessing microstructural substrates of white matter abnormalities using NODDI : application to a metabolic disease. Poster session presented at International Society for Magnetic Resonance in Medicine (ISMRM), .
  44. 2013
  45. Published
  46. Published
  47. Published
    van der Crabben, S. N., Verhoeven-Duif, N. M., Brilstra, E. H., Van Maldergem, L., Coskun, T., Rubio-Gozalbo, E., ... de Koning, T. J. (2013). An update on serine deficiency disorders. Journal of Inherited Metabolic Disease, 36(4), 613-619. https://doi.org/10.1007/s10545-013-9592-4
  48. Published
    Verhagen, J. M. A., Schrander-Stumpel, C. T. R. M., Blezer, M. M. J., Weber, J. W., Schrander, J. J. P., Rubio-Gozalbo, M. E., ... Frints, S. G. M. (2013). Adducted thumbs: A clinical clue to genetic diagnosis. European Journal of Medical Genetics, 56(3), 153-158. https://doi.org/10.1016/j.ejmg.2012.11.004
  49. Published
    Batey, L. A., Welt, C. K., Rohr, F., Wessel, A., Anastasoaie, V., Feldman, H. A., ... Gordon, C. M. (2013). Skeletal health in adult patients with classic galactosemia. Osteoporosis International, 24(2), 501-509. https://doi.org/10.1007/s00198-012-1983-0
  50. 2012
  51. Published
  52. Published
    Waisbren, S. E., Potter, N. L., Gordon, C. M., Green, R. C., Greenstein, P., Gubbels, C. S., ... Berry, G. T. (2012). The adult galactosemic phenotype. Journal of Inherited Metabolic Disease, 32(2), 279-286. https://doi.org/10.1007/s10545-011-9372-y
  53. 2011
  54. Published
  55. Published
  56. Published
    Tabatabaie, L., Klomp, L. W. J., Rubio-Gozalbo, M. E., Spaapen, L. J. M., Haagen, A. A. M., Dorland, L., & de Koning, T. J. (2011). Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency. Journal of Inherited Metabolic Disease, 34(1), 181-184. https://doi.org/10.1007/s10545-010-9249-5
  57. Published
  58. Published
    Waisbren, S. E., Potter, N. L., Gordon, C. M., Green, R. C., Greenstein, P., Gubbels, C. S., ... Berry, G. T. (2011). The adult galactosemic phenotype. 319-320. Abstract from Meeting of the Society for Inherited Metabolic Disorders, .
  59. Published
Previous 1 2 Next